Varaico: Literature-Extracted Genetic Variants

Gene:CD3D
Variant:p.G49A

CD3D

76 papers

RefSeq Summary

The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the...

Pfam Domains

Ig_4aa 30–99UCSCT-cell surface glycoprotein CD3 delta chain
ITAMaa 146–165UCSCImmunoreceptor tyrosine-based activation motif

Gene Aliases

HGNC Name

CD3 delta subunit of T-cell receptor complex

HGNC Previous Symbol

T3D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000732.6
p.G49A
c.146G>C
Surrounding Variants
1 paper
NM_000732.6
p.G49E
c.146G>A
1 paper
NM_000732.6
p.T50S
c.148A>T
1 paper
NM_000732.6
p.G46E
c.137G>A
1 paper
NM_000732.6
p.S53*
c.158C>G
1 paper
NM_000732.6
p.S53*
c.158C>A
1 paper
NM_000732.6
p.E45*
c.133G>T
2 papers
NM_000732.6
p.W43*
c.129G>A
1 paper
NM_000732.6
p.W43S
c.128G>C
2 papers
NM_000732.6
p.W43*
c.128G>A
1 paper
NM_000732.6
p.I64F
c.190A>T
1 paper
NM_000732.6
p.V33G
c.98T>G
16 papers
NM_000732.6
p.R68*
c.202C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."